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essential thrombocythemia
Summary
- Synonym
-
- Essential thrombocythaemia
- familial thrombocytosis
- hemorrhagic thrombocythemia
- hereditary thrombocythemia
- primary Thrombocytosis
- Definition
- A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets.
- Super Class
- myeloproliferative neoplasm
External Links
- Disease Ontology
- DOID:2224
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 27306 | HPGDS | hematopoietic prostaglandin D synthase | |
| 51196 | PLCE1 | phospholipase C epsilon 1 | |
| 51703 | ACSL5 | acyl-CoA synthetase long chain family member 5 | |
| 54187 | NANS | N-acetylneuraminate synthase | |
| 55512 | SMPD3 | sphingomyelin phosphodiesterase 3 | |
| 55997 | CFC1 | cryptic, EGF-CFC family member 1 | |
| 56983 | POGLUT1 | protein O-glucosyltransferase 1 | |
| 57126 | CD177 | CD177 molecule | |
| 60495 | HPSE2 | heparanase 2 (inactive) | |
| 81890 | QTRT1 | queuine tRNA-ribosyltransferase catalytic subunit 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P19440 | Glutathione hydrolase 1 proenzyme | |
| P19526 | Galactoside alpha-(1,2)-fucosyltransferase 1 | |
| P20138 | Myeloid cell surface antigen CD33 | |
| P20273 | B-cell receptor CD22 | |
| P20815 | Cytochrome P450 3A5 | |
| P22083 | Alpha-(1,3)-fucosyltransferase 4 | |
| P22303 | Acetylcholinesterase | |
| P23219 | Prostaglandin G/H synthase 1 | |
| P23786 | Carnitine O-palmitoyltransferase 2, mitochondrial | |
| P27797 | Calreticulin |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001892 | Abnormal bleeding |
| HP:0100576 | Amaurosis fugax |
| HP:0002315 | Headache |
| HP:0004936 | Venous thrombosis |
| HP:0000505 | Visual impairment |
| HP:0003010 | Prolonged bleeding time |
| HP:0011974 | Myelofibrosis |
| HP:0001894 | Thrombocytosis |
| HP:0100659 | Abnormal cerebral vascular morphology |
| HP:0002321 | Vertigo |
